| Metadata | |
|---|---|
| ID | DOID:0111590 |
| Name | Cohen syndrome |
| Definition | A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. https://ghr.nlm.nih.gov/condition/cohen-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/12730828, https://www.ncbi.nlm.nih.gov/pubmed/24334764 |
| Xrefs |
MEDDRA:10049066 SNOMEDCT_US_2023_03_01:56604005 |
| Subsets |
DO_rare_slim |
| Synonyms |
COH1 [EXACT] Hypotonia, obesity, and prominent incisors [EXACT] Pepper syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |